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Adult Cystic Fibrosis: Anyone had the Invitae Cystic Fibrosis Test?
Cystic fibrosis (CF) can occur in families without a known history of the disease, as both parents may be carriers of the CF gene without showing symptoms.
Cystic fibrosis can be diagnosed in older adults through a combination of clinical evaluation, sweat tests, and genetic testing to identify mutations in the CFTR gene. Symptoms may include chronic 'respiratory issues' and 'digestive problems', which 'can lead to a delayed diagnosis until adulthood'.
People who are more likely to have CF are people of Northern European descent who seem to be at the highest risk of having CF.
I am of Northern European descent.
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Common symptoms of adult onset Cystic Fibrosis that I have include:
respiratory infections
night sweats
joint and muscle pain
nasal polyps (a persistent stuffy or blocked nose)
difficulty gaining weight - I have a good appetite
constipation - Mirilax nightly
osteoporsis- Prolia injections
Fungal infections are common in individuals with cystic fibrosis, particularly in older adults.
2024 Bronchoscopy documented Candida
Cystic fibrosis (CF) can lead to various lung infections, including those caused by * Mycobacterium avium complex (MAC), which is commonly found in CF patients.
2023 Bronchoscopy documented Mycobacterium avium complex (MAC)
Cystic fibrosis can lead to complications such as pulmonary hypertension and right ventricular dysfunction, which may contribute to changes in the aorta, including dilation. - I have a dilated aorta
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I contacted the Cystic Fibrosis Foundation
The Cystic Fibrosis Foundation referred me to the Adult Cystic Fibrosis Center of Central Texas
The Adult Cystic Fibrosis Center of Central Texas doesn't offer the sweat test and genetic testing to identify mutations in the CFTR gene.
The Adult Cystic Fibrosis Center of Central Texas only offers Cystic Fibrosis retreatment.
The Adult Cystic Fibrosis Center of Central Texas referred me to my PCP or my Infectious Disease Specialist to order the sweat test and genetic testing to identify mutations in the CFTR gene.
Previously, I have received Connective Tissues Disordfers genetic testing through Invitae.
# 1. Invitae Cystic Fibrosis Test Test code: 04714 1 gene
or
# 2. Cystic Fibrosis, CFTR Gene, Variant Panel, Varies
This test includes targeted testing to evaluate over 500 genetic variants including 23 disease-causing
Has anyone received the Invitae Cystic Fibrosis Test?
If so is, is the # 1. 1 gene sufficient or is # 2. better because is tests over 500 genetic variants?
Thank you
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allegra aka fexofenadine
@scoop
You don't have Cystic Fibrosis, but you have bronchiectasis with chronic sinusitis, allergic rhinitis and you have started receiving allery shots for your allergic rhinitis.
Did you receive the Cystic Fibrosis Sweat Test and genetic testing to identify mutations in the CFTR gene to determine that you don't have Cystic Fibrosis?
Are you receiving anitbiotics to treat your bronchiectasis?
@vipp Had Invitae genetic testing for CF and it was negative across the board. Never took sweat test. I do not take antibiotics for bronchiectasis as of now I am test negatively for NTM and other pathogens. I forgot to include that I also have asthma.
@scoop
< Never took sweat test.>
Apparently, your Pulminologist didn't think the Cystic Fibrosis Sweat Chloride Test was necessary in your case.
That is interesting to know as it seems that you have to receive the Cystic Fibrosis Sweat Chloride Test in order to receive the CFTR gene test.
< Had Invitae genetic testing for CF>
Per chance do you know if you received the Invitae Cystic Fibrosis Test Test code: 04714 1 gene or the Cystic Fibrosis, CFTR Gene, Variant Panel, Varies - This test includes targeted testing to evaluate over 500 genetic variants including 23 disease-causing?
I have received genetic Invitae panels testing for Connective Tissue Disorders and Immunological Deficiencies.
Thank you for your reply.
@vipp The test ordered by immunologist was for the latter of the CF tests you describe in addition to some other unrelated panels. Had I gone to an in the know pulmonologist they would have tested for CF but I did not find a bronchiectasis-knowledgeable pulmonary doctor until later.
High bilirubin levels in individuals with cystic fibrosis can occur due to liver-related complications, particularly when bile becomes thick and blocks bile
ducts, leading to liver damage. This condition is known as cystic fibrosis-related liver disease (CFLD), which affects a small percentage of those with cystic
fibrosis.
Gilbert’s Syndrome: Some individuals with CF may also have Gilbert’s syndrome, a genetic condition that affects bilirubin processing, leading to higher bilirubin levels.
Years ago, I was diagnosed with Gilbert’s Syndrome due to persistent high bilirubin levels.
Does anyone diagnosed with Cystic Fibrosis also have a Gilbert’s Syndrome diagnosis?
09/29/2025
I found the following at cystic-fibrosis
Cystic Fibrosis relationship to Arthritis
Even with persistent disease, patients often don’t meet the criteria to be diagnosed with rheumatoid arthritis.
Because there’s persistent infection and, therefore, inflammation, the immune system works overtime causing an inflammatory reaction within the joints.
No specific antigen in the immune response has been identified.
CFA is connected to gastroenterology complications of CF such as malabsorption and other GI issues.
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I have consulted 3 Rheumatologists regarding my chronic my biceps, chest, legs and feet inflammatory nerve pain
I don't have rheumatoid arthritis.
10/27/2025
I have Addison's Disease / Adrenal Insufficiency and have been taking a low daily dose of Hydrocortisone for 3 years,
Drugs used to treat Addison's Disease / Adrenal Insufficiency
Hydrocortisone is also used to replace steroids in people with adrenal insufficiency (decreased production of natural steroids by the adrenal glands).
Hydrocortisone can potentially affect the results of a cystic fibrosis chloride sweat test, as it may lower the chloride concentration in sweat, leading to a false negative result.
I received the Cystic Fibrosis Chloride levels Sweat Test
My results were in the Borderline Levels.
Perhaps my numbers would have been if I wasn't taking a low daily dose of Hydrocortisone.
I received the ARUP Laboratories Cystic Fibrosis (CFTR) Expanded Variant Panel CF VAR Test
Test name Result Flag Units RefIntvl
Cystic Fibrosis, Allele 1 Negative
Cystic Fibrosis, Allele 2 Negative
Cystic Fibrosis 5T Variant Negative
CF Expanded Variant Panel Interp 0 variants
Testing is negative for cystic fibrosis.
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Cystic Fibrosis complications include recurrent lung infections, pancreatic insufficiency, and male infertility. Pulmonary Fibrosis complications primarily involve progressive breathing difficulty, right heart failure, and increased risk of lung infections.
Has anyone thought to have Cystic Fibrosis was diagnosed with Pulmonary fibrosis?
Thank you for your replies.
Genetic testing at Mayo Clinic revealed I have the CFTR gene for CF. I had the Sweat Chloride test at NJH and was positive for CF. Tested again and was positive at Vanderbilt. Diagnosed with CFTR-RD (Cystic Fibrosis related disease). I nebulize Pulmozyme daily for CF along with albuterol/sodium chloride nebulizer 2x day. I am also on weekly infusion of Hizentra for immune deficiency. Vanderbilt CF clinic is doing advanced genetic testing (that may be what you’re asking about) and should have those results soon.